PHKG2 (phosphorylase kinase catalytic subunit gamma 2)

2003-11-01  

Identity

HGNC
LOCATION
16p11.2
LOCUSID
ALIAS
GSD9C
FUSION GENES

Other Information

Locus ID:

NCBI: 5261
MIM: 172471
HGNC: 8931
Ensembl: ENSG00000156873

Variants:

dbSNP: 5261
ClinVar: 5261
TCGA: ENSG00000156873
COSMIC: PHKG2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156873ENST00000328273J3KNN3
ENSG00000156873ENST00000424889P15735
ENSG00000156873ENST00000561712H3BTI9
ENSG00000156873ENST00000563588P15735
ENSG00000156873ENST00000563607H3BN16
ENSG00000156873ENST00000565897H3BTW6
ENSG00000156873ENST00000565924H3BP07

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Insulin signaling pathwayKEGGko04910
Calcium signaling pathwayKEGGhsa04020
Insulin signaling pathwayKEGGhsa04910
Glucagon signaling pathwayKEGGhsa04922
Glucagon signaling pathwayKEGGko04922
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
Glycogen breakdown (glycogenolysis)REACTOMER-HSA-70221

References

Pubmed IDYearTitleCitations
176891252007Glycogen storage disease type IX: High variability in clinical phenotype.18
243890712014Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.9
243263802014Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.3

Citation

Dessen P

PHKG2 (phosphorylase kinase catalytic subunit gamma 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/41706/phkg2-(phosphorylase-kinase-catalytic-subunit-gamma-2)